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Emma L Blakely

Showing results (31-40 of 95) with videos related to

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Nucleic Acids Research|July 24, 2002
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCRLangping He, Patrick F Chinnery, Steve E Durham, et al.
Brain : a Journal of Neurology|November 6, 2008
Resistance training in patients with single, large-scale deletions of mitochondrial DNAJulie L Murphy, Emma L Blakely, Andrew M Schaefer, et al.
Neuromuscular Disorders : NMD|August 27, 2025
Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibresTaylor Watson-Fargie, David G Anderson, William Stewart, et al.
The British Journal of Ophthalmology|July 22, 2017
Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA<sup>Lys</sup> (m.8340G>A) gene variantJaidip S Gill, Steven A Hardy, Emma L Blakely, et al.
Journal of Neuromuscular Diseases|April 21, 2020
Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1Luke O'Donnell, Emma L Blakely, Karen Baty, et al.
Journal of the Neurological Sciences|January 1, 2013
The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial diseaseJohn W Yarham, Emma L Blakely, Charlotte L Alston, et al.
Archives of Neurology|March 11, 2009
A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological featuresEmma L Blakely, S Anand Trip, Helen Swalwell, et al.
The FEBS Journal|July 13, 2005
A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeastEmma L Blakely, Anna L Mitchell, Nicholas Fisher, et al.
Annals of Neurology|October 2, 2003
Genotypes from patients indicate no paternal mitochondrial DNA contributionRobert W Taylor, Martina T McDonnell, Emma L Blakely, et al.
European Journal of Human Genetics : EJHG|March 20, 2014
A national perspective on prenatal testing for mitochondrial diseaseVictoria Nesbitt, Charlotte L Alston, Emma L Blakely, et al.
Pageof 10

Showing results (31-40 of 95) with videos related to

Sort By:
Pageof 10
Nucleic Acids Research|July 24, 2002
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCRLangping He, Patrick F Chinnery, Steve E Durham, et al.
Brain : a Journal of Neurology|November 6, 2008
Resistance training in patients with single, large-scale deletions of mitochondrial DNAJulie L Murphy, Emma L Blakely, Andrew M Schaefer, et al.
Neuromuscular Disorders : NMD|August 27, 2025
Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibresTaylor Watson-Fargie, David G Anderson, William Stewart, et al.
The British Journal of Ophthalmology|July 22, 2017
Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA<sup>Lys</sup> (m.8340G>A) gene variantJaidip S Gill, Steven A Hardy, Emma L Blakely, et al.
Journal of Neuromuscular Diseases|April 21, 2020
Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1Luke O'Donnell, Emma L Blakely, Karen Baty, et al.
Journal of the Neurological Sciences|January 1, 2013
The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial diseaseJohn W Yarham, Emma L Blakely, Charlotte L Alston, et al.
Archives of Neurology|March 11, 2009
A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological featuresEmma L Blakely, S Anand Trip, Helen Swalwell, et al.
The FEBS Journal|July 13, 2005
A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeastEmma L Blakely, Anna L Mitchell, Nicholas Fisher, et al.
Annals of Neurology|October 2, 2003
Genotypes from patients indicate no paternal mitochondrial DNA contributionRobert W Taylor, Martina T McDonnell, Emma L Blakely, et al.
European Journal of Human Genetics : EJHG|March 20, 2014
A national perspective on prenatal testing for mitochondrial diseaseVictoria Nesbitt, Charlotte L Alston, Emma L Blakely, et al.
Pageof 10